RecruitingNCT01247597

DICER1-related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study

DICER1-Related Pleuropulmonary Blastoma Cancer Predisposition Syndrome: A Natural History Study


Sponsor

National Cancer Institute (NCI)

Enrollment

1,500 participants

Start Date

Feb 13, 2011

Study Type

OBSERVATIONAL

Conditions

Summary

Background: \- Pleuropulmonary blastoma (PPB) is a rare fast-growing lung tumor that is associated with other, rare tumor types. Most cases of PPB appear in children younger than 6 years of age. Recently, it has been shown that this condition can be inherited (e.g., mutation of the DICER1 gene). Researchers are studying both clinical and genetic aspects of this newly described condition. They are interested in collecting further medical history and genetic information on individuals and close relatives of individuals who have PPB or other rare associated tumors. Objectives: \- To study individuals with a personal or a family history of pleuropulmonary blastoma (PPB) or other rare tumors that can be associated with PPB (e.g., cystic nephroma, nasal chondromesenchymal hamartoma, ovarian Sertoli-Leydig cell tumors, ocular medulloepithelioma). Eligibility: * Individuals who have been diagnosed with PPB and/or PPB-related tumors. * Close blood relatives (e.g., parents, siblings, grandparents) of individuals who have been diagnosed with PPB and/or PPB-related tumors. Design: * Interested participants can enroll or inquire about this study by calling 1-800-518-8474. * Participants will be asked to complete family history and medical history questionnaires. They will complete the questionnaire if they are at least 18 years of age, or another person will complete the questionnaire if the key family member is too young to do so on his or her own. * Participants will be asked to sign a medical record release form to allow researchers to examine detailed medical history information. * Participants may be asked to have a physical examination and imaging studies, provide blood and saliva samples, or provide tumor tissue from prior biopsies or cancer surgeries. * Annually, participants will update the family history and individual information questionnaires to document important changes in medical history, and will also update the medical record release form. Participants may be asked to provide additional cheek lining cells and/or blood samples, as well as tumor tissue from any new or planned biopsies or tumor surgeries. * Treatment will not be provided as part of this protocol.


Eligibility

Min Age: 1 MonthMax Age: 99 Years

Plain Language Summary

Simplified for easier understanding

This natural history study follows individuals and families with DICER1 syndrome — a rare inherited condition that raises the risk of developing certain uncommon tumors (including a rare childhood lung cancer called pleuropulmonary blastoma) — to understand how the condition develops over time. **You may be eligible if...** - You have been diagnosed with pleuropulmonary blastoma (PPB) or another DICER1-related tumor (such as cystic kidney tumors, ovarian sex cord-stromal tumors, eye tumors, or thyroid cancer) - You carry a known or suspected DICER1 gene mutation - You are a family member (parent, sibling, or child) of someone with confirmed DICER1 syndrome - There is no age restriction **You may NOT be eligible if...** - Your reported diagnosis cannot be verified through medical records or tissue review Talk to your doctor to see if this trial is right for you.

This summary was AI-generated to explain the trial in plain language. It is not medical advice. Always discuss eligibility with your doctor before enrolling in a clinical trial.

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Locations(2)

National Institutes of Health Clinical Center

Bethesda, Maryland, United States

National Cancer Institute - Shady Grove

Rockville, Maryland, United States

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NCT01247597


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